LCH in Children

Diagnosis and Treatment

The diagnosis of LCH is made following a biopsy of the affected tissue. A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist. If the cells in the tissue have certain characteristics such as Birbeck granules (small tennis racket shaped membrane-bound granule) , and expression of specific proteins, the diagnosis of LCH can be made. This procedure can be performed on any location but usually is done on the skin, bone, lymph nodes, liver, lung or bone marrow.

In addition, the following tests may be performed depending on particular symptoms in the child.

Blood chemistry tests: Studies for kidney, coagulation, thyroid and immune function; abnormal level can be a sign of disease.

Liver function tests: Checking blood levels of substances released by the liver; an abnormal level can be a sign of disease in the liver.

Urinalysis: Testing the amount of red cells, white cells, protein and sugar in the urine.

Water deprivation test: Checks how much urine is made and whether it becomes concentrated when water is withheld; used when diabetes insipidus is suspected.

Bone marrow biopsy: The removal of bone marrow, blood and a small piece of bone by inserting a hollow needle into the hipbone; the sample is studied under a microscope to look for signs of LCH.

X-ray: Performed of the lungs or the bones to determine if there are abnormalities.

Bone scan: A scan for bone lesion in which a small amount of radioactive material is injected into a vein, collects in any abnormal parts of the bones and is shown on a scanner.

CT scan: For this x-ray dye may be injected into a vein or swallowed to help find any abnormalities; the scan takes a number of detailed pictures at different angles inside the body.

MRI: Using a substance called gadolinium injected into a vein to highlight areas of disease involvement, this scan then takes a number of detailed pictures inside the body.

PET scan: A small amount of radioactive sugar is injected into a vein, and diseased cells show up brighter on the scanner.

Ultrasound: High-energy sound waves are bounced off organs and tissue and make echoes, which form a picture of the internal body.

Endoscopy: When involvement of the digestive tract is suspected, a tube is passed into a body opening such as mouth or rectum to look at internal tissue; often, a biopsy is also taken at the same time.

Treatment depends upon the individual patient and is planned after thorough testing to determine the extent of disease. In some cases, LCH may regress on its own without treatment. In others, minimal treatment such as steroids, NSAIDS (anti-inflammatory drugs), or even surgical removal will result in a positive outcome. Low-dose radiation may be helpful for some situations. In patients with more extensive disease, systemic chemotherapy is most often necessary. Several drugs and combinations have been shown in clinical trials to give excellent outcomes with minimal side effects. These drugs include steroids (prednisone), vinblastine, vincristine, etoposide (VP-16), methotrexate, cytosine arabinoside (Ara-C) and 6-MP. For patients with severe disease that progresses and is not responsive to initial treatment, chemotherapy with 2-CdA, alone or in combination with Ara-C, thalidomide or ultraviolet light (PUVA) has been used in patients with only skin disease. Steroid or other types of creams may also help limited skin disease. In very rare cases, liver, lung, or even bone-marrow transplant has been necessary for recovery.

The goal of an overall treatment plan is to use as little treatment as possible to keep the disease under control and allow it to heal by itself.

Based on the LCH-II study manuscript physicians can obtain the Histiocyte Society LCH Standard of Care by visiting www.histiocytesociety.org.